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NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 3, 2020
Accession:
VCV000966427.3
Variation ID:
966427
Description:
1bp duplication
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NM_001844.5(COL2A1):c.2678dup (p.Ala895fs)

Allele ID
956878
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 47980009-47980010 (GRCh38) GRCh38 UCSC
12: 48373792-48373793 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_001844.5:c.2678dupC MANE Select
NC_000012.11:g.48373798dup
NC_000012.12:g.47980015dup
... more HGVS
Protein change
A826fs, A895fs
Other names
-
Canonical SPDI
NC_000012.12:47980009:GGGGGG:GGGGGGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1938958532
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 25, 2020 RCV001241102.2
Pathogenic 1 criteria provided, single submitter Nov 3, 2020 RCV001263467.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
COL2A1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1214 1225

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Stickler syndrome type 1
Affected status: unknown
Allele origin: germline
Johns Hopkins Genomics, Johns Hopkins University
Accession: SCV001441541.1
Submitted: (Nov 03, 2020)
Publications:
PubMed (4)
PubMed: 20179744225221742662631126709265
Comment:
This COL2A1 variant is absent from a large population database and has an entry in ClinVar. It has been reported in individuals affected with Stickler … (more)
Pathogenic
(Sep 25, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001414096.2
Submitted: (Jan 07, 2021)
Publications:
PubMed (3)
PubMed: 201797442670926526626311
Comment:
This sequence change creates a premature translational stop signal (p.Ala895Serfs*49) in the COL2A1 gene. It is expected to result in an absent or disrupted protein … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea. Yoon JM Annals of laboratory medicine 2016 PMID: 26709265
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. Barat-Houari M European journal of human genetics : EJHG 2016 PMID: 26626311
Mosaicism in Stickler syndrome. Stevenson DA European journal of medical genetics 2012 PMID: 22522174
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Hoornaert KP European journal of human genetics : EJHG 2010 PMID: 20179744

Text-mined citations for rs1938958532...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021